Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene. [5] This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. [6] .

Dec 25, 2024 · IRF6 (Interferon Regulatory Factor 6) is a Protein Coding gene. Diseases associated with IRF6 include Orofacial Cleft 6 and Popliteal Pterygium Syndrome. Among its related pathways are Antiviral mechanism by IFN-stimulated genes and Cytokine Signaling in Immune system.

Oct 30, 2003 · Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end.

Aug 19, 2004 · We identified the gene that encodes interferon regulatory factor 6 (IRF6) as a candidate gene on the basis of its involvement in an autosomal dominant form of cleft lip and palate, Van der...

IRF6 directly targets the ABCG2 gene and selectively kills cancer stem cells in nasopharyngeal carcinoma; study reports a significant association between the rs2235371 variant in the IRF6 gene and non-syndromic cleft lip/palate in Mexican Mestizos

The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

Aug 19, 2016 · IRF6 -related disorders are a group of orofacial clefting disorders including Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS). These conditions are caused by mutations in the interferon regulatory factor 6 (IRF6) gene. Individuals with VWS are at the least severe end of the spectrum.

Aug 1, 2024 · In this study, Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) screens found that Irf6 deficiency enhanced IFN-stimulated antiviral responses in transformed mouse IECs but not macrophages. Furthermore, knockout (KO) of Irf6 in IEC organoids resulted in profound changes to homeostasis and immunity gene expression.

Interferon regulatory factor 6 (IRF6) acts as a tumor suppressor and controls cell differentiation in ectodermal and craniofacial tissues by regulating expression of target genes. Haploinsufficiency of IRF6 causes Van der Woude and popliteal ...

Jul 6, 2012 · Clinical resource with information about IRF6, A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4., Autosomal dominant popliteal pterygium syndrome, Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci., Key susceptibility ...